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Updated: May 8, 2026
Wild-type Blocking PCR Combined with Direct Sequencing as a Highly Sensitive Method for Detection of Low-Frequency Somatic Mutations
Published on: March 29, 2017
MYD88 L265P somatic mutation: its usefulness in the differential diagnosis of bone marrow involvement by B-cell
Sarah L Ondrejka1, Jeffrey J Lin, Doug W Warden
1Department of Clinical Pathology, Cleveland Clinic, Cleveland, OH, USA.
Objectives:
To examine the usefulness of the MYD88 L265P somatic mutation in identifying cases of lymphoplasmacytic lymphoma (LPL) from other lymphoplasmacytic neoplasms in bone marrow biopsy specimens.
Methods:
We studied 64 bone marrow biopsy specimens with involvement by various small B-cell lymphomas or plasma cell myeloma.
Results:
The MYD88 L265P somatic mutation was present in 13/13 cases of LPL, 1/13 cases of hairy cell leukemia, and absent in the other mature B-cell neoplasms tested. A test set of diagnostically challenging bone marrow cases with lymphoplasmacytoid morphology (B-cell lymphoma, not otherwise specified) was selected for additional review and reclassified, without knowledge of the MYD88 L265P status. Of those 16 cases, 7 were positive for MYD88, including 4/4 cases that were reclassified as LPL during the review.
Conclusions:
Although not entirely specific, MYD88 L265P is a useful adjunct for bone marrow diagnosis in separating LPL from other small B-cell lymphomas and plasma cell myeloma.
